Phenotypes Associated with This Genotype

Genotype
MGI:3584030

• Allelic Composition: Ap3b1^pe-rim2/Ap3b1^pe-rim2
• Genetic Background: involves: B10.A(R201) * C57BL/10Slc

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Abnormal eye pigmentation of the Ap3b1^pe-rim2/Ap3b1^pe-rim2 mouse.

hematopoietic system

decreased platelet ATP level ( J:42685 )

• storage pools of the adenine nucleotides ATP is significantly reduced

decreased platelet ADP level ( J:42685 )

• storage pools of the adenine nucleotide ADP is significantly decreased

decreased platelet aggregation ( J:42685 )

• collagen-induced aggregation of platelets is lower in mutants than in controls

abnormal platelet dense granule physiology ( J:42685 )

• platelets showed absence of released ATP from the platelets

• the levels of specific uptake of serotonin and mepacrine into dense granules are only half those of the control

pigmentation

hypopigmentation ( J:42685 )

• reduction of pigment in the fur, ears and tail

decreased eye pigmentation ( J:42685 )

• at birth, an absence of eye pigmentation is noted

• with age, the eye pigment increases to wild-type levels

• less pigment is detected in the retinal pigment epithelium and choroidea than controls

vision/eye

decreased eye pigmentation ( J:42685 )

• at birth, an absence of eye pigmentation is noted

• with age, the eye pigment increases to wild-type levels

• less pigment is detected in the retinal pigment epithelium and choroidea than controls

cataract ( J:42685 )

• frequently observed

anophthalmia ( J:42685 )

• frequently observed

homeostasis/metabolism

decreased platelet ATP level ( J:42685 )

• storage pools of the adenine nucleotides ATP is significantly reduced

decreased platelet aggregation ( J:42685 )

• collagen-induced aggregation of platelets is lower in mutants than in controls

abnormal platelet dense granule physiology ( J:42685 )

• platelets showed absence of released ATP from the platelets

• the levels of specific uptake of serotonin and mepacrine into dense granules are only half those of the control

cellular

decreased platelet ATP level ( J:42685 )

• storage pools of the adenine nucleotides ATP is significantly reduced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 2		DOID:0060540	OMIM:608233	J:42685
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:42685